Autosomal dominant cerebellar ataxia

Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis

The Cerebellum ◽

10.1007/s12311-008-0053-9 ◽

2008 ◽

Vol 7 (2) ◽

pp. 184-188 ◽

Cited By ~ 42

Author(s):

Caterina Mariotti ◽

Alfredo Brusco ◽

Daniela Di Bella ◽

Claudia Cagnoli ◽

Marco Seri ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Spinocerebellar Ataxia ◽

Autosomal Dominant ◽

Autosomal Dominant Cerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Slow Progression

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity

Brain ◽

10.1093/brain/116.6.1497 ◽

1993 ◽

Vol 116 (6) ◽

pp. 1497-1508 ◽

Cited By ~ 26

Author(s):

A. Durr ◽

H. Chneiweiss ◽

C. Khati ◽

G. Stevanin ◽

G. Cancel ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Genetic Heterogeneity ◽

Autosomal Dominant ◽

Phenotypic Variability ◽

Autosomal Dominant Cerebellar Ataxia ◽

Type I

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family

Annals of Neurology ◽

10.1002/1531-8249(200101)49:1<117::aid-ana19>3.0.co;2-g ◽

2001 ◽

Vol 49 (1) ◽

pp. 117-121 ◽

Cited By ~ 59

Author(s):

Hiroto Fujigasaki ◽

Ishwar C. Verma ◽

Agn�s Camuzat ◽

Russell L. Margolis ◽

Cecilia Zander ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Autosomal Dominant ◽

Autosomal Dominant Cerebellar Ataxia ◽

Indian Family

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)

Human Molecular Genetics ◽

10.1093/hmg/7.2.165 ◽

1998 ◽

Vol 7 (2) ◽

pp. 165-170 ◽

Cited By ~ 164

Author(s):

G David

Keyword(s):

Cerebellar Ataxia ◽

Autosomal Dominant ◽

Autosomal Dominant Cerebellar Ataxia ◽

Macular Dystrophy ◽

Clinical Correlations

DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E)

Neurological Sciences ◽

10.1007/s10072-019-03859-7 ◽

2019 ◽

Vol 40 (9) ◽

pp. 1963-1966 ◽

Cited By ~ 1

Author(s):

Alessia Catania ◽

Lorenzo Peverelli ◽

Silvia Tabano ◽

Daniele Ghezzi ◽

Costanza Lamperti

Keyword(s):

Hearing Loss ◽

Cerebellar Ataxia ◽

Autosomal Dominant ◽

Novel Mutation ◽

Sensory Neuropathy ◽

Autosomal Dominant Cerebellar Ataxia ◽

Complex Disorder ◽

Hereditary Sensory Neuropathy

Search for the Chromosomal Location of Autosomal Dominant Cerebellar Ataxia from Holguin, Cuba: Exclusion from Candidate Regions on Chromosome 4 and 11q

Human Heredity ◽

10.1159/000154107 ◽

1993 ◽

Vol 43 (1) ◽

pp. 12-20 ◽

Cited By ~ 2

Author(s):

Suzana Gispert ◽

Christian Nothers ◽

Guillermo Orozco ◽

Georg Auburger

Keyword(s):

Cerebellar Ataxia ◽

Autosomal Dominant ◽

Chromosomal Location ◽

Autosomal Dominant Cerebellar Ataxia ◽

Chromosome 4 ◽

Candidate Regions

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Human Molecular Genetics ◽

10.1093/hmg/dds035 ◽

2012 ◽

Vol 21 (10) ◽

pp. 2205-2210 ◽

Cited By ~ 144

Author(s):

Juliane Winkelmann ◽

Ling Lin ◽

Barbara Schormair ◽

Birgitte R. Kornum ◽

Juliette Faraco ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Autosomal Dominant ◽

Autosomal Dominant Cerebellar Ataxia

A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

Journal of Human Genetics ◽

10.1007/s10038-006-0385-6 ◽

2006 ◽

Vol 51 (5) ◽

pp. 461-466 ◽

Cited By ~ 21

Author(s):

Takako Ohata ◽

Kunihiro Yoshida ◽

Haruya Sakai ◽

Haruka Hamanoue ◽

Takeshi Mizuguchi ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Autosomal Dominant ◽

Autosomal Dominant Cerebellar Ataxia